Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes-Reference-Cited by-同舟云学术

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Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

Published:2008-05-28 Issue:4 Volume:35 Page:655-664
ISSN:0939-4451
Container-title:Amino Acids
language:en
Short-container-title:Amino Acids

Author:

Hu Chien-an A.,Bart Williams D.,Zhaorigetu Siqin,Khalil Shadi,Wan Guanghua,Valle David

Publisher

Springer Science and Business Media LLC

Subject

Organic Chemistry,Clinical Biochemistry,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s00726-008-0107-9.pdf

Reference55 articles.

1. Baumgartner MR, Hu CAA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray J-M, Valle D (2000) Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta-1-pyrroline-5-carboxylate synthase. Hum Mol Gen 9:2853–2858

2. Bender H, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D (2005) Functional consequences of PRODH missense mutations. Am J Hum Genet 76:409–420

3. Böck A, Forchhammer K, Heider J, Leinfelder W, Sawers G, Veprek B, Zinoni F (1991) Selenocysteine: the 21st amino acid. Mol Microbiol 5:515–520

4. Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D (1992) Ornithine delta aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem 267:3302–3307

5. Cooper SK, Pandhare J, Donald SP, Phang JM (2008) A novel function for hydroxyproline oxidase in apoptosis through generation of reactive oxygen species. J Biol Chem 283:10485–10492

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